Clinical Genomics Archives - Page 15 of 20 - Ambry Genetics

Presentation
Diagnostic Exome Sequencing in a Prenatal Setting.

Clinical Genomics

Speakers:
Christina L. Alamillo

Conference:
Genetic Task Force of Illinois GTFI 2016

Friday, Feb 5, 2016 3:00pm – 6:00pm

Presentation
Presentation
De novo Mutations of KIAA2022 in Females Cause Epileptic Encephalopathy.

Clinical Genomics

Speakers:
Katherine Helbig, Iris de Lange, Sarah Weckhuysen, Rikke Mu00f8ller, Milen Velinov, Laura Farach, Eric Marsh, Ingo Helbig, Sha Tang, Heather Mefford, Wim Van Paesschen, Pasquale Striano, Koen van Gassen, Marjan van Kempen, Carolien de Kovel, Juliette Piard, Berge Minassian, Marjan Nezarati, Andru00e9 Pessoa, Aurelia Jacquette, Ruben van 't Slot, Lionel Van Maldergem, Eva Brilstra, Bobby Koeleman

Conference:
ACMG 2016

Tuesday, Mar 8, 2016 3:00pm – 6:00pm

Abstract
Presentation
Rising to the Level of Clinical Importance: Challenges to adjudicating and reporting variants discovered with genomic analysis.

Clinical Genomics

Speakers:
Jill Dolinsky

Conference:
ACMG 2016

Tuesday, Mar 8, 2016 3:00pm – 5:25pm

Abstract
Presentation
Clinical diagnostic exome sequencing identified compound heterozygous ASPM gene alterations in a fetus with marked microcephaly.

Clinical Genomics

Speakers:
Christina L. Alamillo, Zu00f6e Powis, Kelly Farwell, Joyce A. Kobori, Jazmine Jung, Sha Tang, Elizabeth C. Chao

Conference:
ACMG 2016

Friday, Mar 11, 2016 2:00pm – 3:00pm

Abstract Presentation
Presentation
Clinical Laboratories Implement the ACMG/AMP Guidelines to Resolve Differences in Variant Interpretations Submitted to ClinVar.

Clinical Genomics

Speakers:
Steven M. Harrison, Jill Dolinsky, Lisa Vincent, Amy Knight Johnson, Tina Pesaran, Danielle R. Azzariti, Soma Das, Sherri Bale, Heidi L. Rehm

Conference:
Curating the Clinical Genome 2016

Wednesday, Jun 22, 2016 3:15pm – 5:25pm

Collaborators:

Partners HealthCare Personalized Medicine, Cambridge, MA

Abstract
Presentation
AmbryShare: A Model for Sharing Genomic Data to Understand all Human Disease.

Clinical Genomics

Speakers:
Virginia Speare

Conference:
The Festival Of Genomics & Biodata 2016

Tuesday, Jun 28, 2016 10:20am – 10:30am

Presentation
Presentation
Whole Exome Sequencing in the Epilepsies: The Developing Diagnostic Exome Signature of Epilepsy Genes over a Five-Year Period.

Clinical Genomics

Speakers:
Katherine Helbig, Kelly D. F. Hagman, Zu00f6e Powis, Sha Tang, Ingo Helbig

Conference:
—

Tuesday, Sep 13, 2016 6:00pm – 6:15pm

Abstract
Presentation
To disclose or not to disclose: An investigation of counselor self-disclosure in the field of genetic counseling

Clinical Genomics

Session:
#1229

Speakers:
Brianna Volz, Kathleen Valverde, Steve Robbins

Conference:
NSGC 2016

Friday, Sep 30, 2016 11:30am – 11:15am

Collaborators:

Arcadia University

Abstract
Presentation
Prenatal exome sequencing: Issues of clinical utility and beyond

Clinical Genomics

Session:
#1401

Speakers:
Brian Andy Castro

Conference:
NSGC 2016

Friday, Sep 30, 2016 10:45am – 11:00am

Abstract
Presentation
Reframing what we already know: Sales and marketing 101 for genetic counselors

Clinical Genomics

Speakers:
Deepti Babu, Andrea Secord, Rachel Vanneste

Conference:
CAGC 2016

Friday, Nov 4, 2016 2:00pm – 3:15pm

Abstract

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